Abstract：
:Severe combined immunodeficiency (SCID) encompasses a group of genetic defects. T cell development is universally affected and has alteration of B and/or NK cells. We present the case of a 5-day-old boy with combined heterozygous frame shift (c.256_257del, p.(Lys86Valfs*33)) and missense (c.1186C>T, p.(Arg396Cys)) variations in the RAG1 gene. He was admitted to our institution because of 0 TREC on Newborn Screen and worsening rash. Initially thought to have Omenn syndrome versus maternal engraftment with graft versus host disease, DNA analysis identified the noted mutations and he subsequently received a bone marrow transplant from a matched sibling.
journal_name
Clin Perinatoljournal_title
Clinics in perinatologyauthors
Tallar M,Routes Jdoi
10.1016/j.clp.2019.09.004subject
Has Abstractpub_date
2020-03-01 00:00:00pages
77-86issue
1eissn
0095-5108issn
1557-9840pii
S0095-5108(19)30105-8journal_volume
47pub_type
杂志文章,评审abstract：:History has always been a series of pendulum swings, and there is perhaps no better example in obstetrics than that of vaginal birth after cesarean. Vaginal birth after cesarean (VBAC) rates rose steadily in the early 1990s. However, VBAC rates have declined dramatically over recent years, while the cesarean delivery ...
journal_title：Clinics in perinatology
pub_type： 杂志文章
doi：10.1016/j.clp.2011.03.005
更新日期：2011-06-01 00:00:00
abstract：:There is now clear evidence that dietary supplementation of omega-3 fatty acid is essential for normal eye and brain development. Corn oil-based diets induce omega-3 deficiency in preterm infants, affecting retinal responses to light, cortical visual evoked potentials, and behavioral measures of visual acuity. Preterm...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1995-03-01 00:00:00
abstract：:Despite advances in neonatal medicine, the mortality rate for congenital diaphragmatic hernia remains high. The results of work in animal models suggest that this anomaly may be amenable to in utero surgical correction. In this article, the natural history of congenital diaphragmatic hernia in humans is reviewed, and ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1996-09-01 00:00:00
abstract：:In patients with chronic renal disease, all advice and decisions must take into account the balance between pregnancy outcome and the long-term impact that pregnancy might have on the disease. To help the clinician address these concerns, the authors focus on the renal changes in normal pregnancy, the problems of chro...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1985-10-01 00:00:00
abstract：:Diabetic pregnancies involve complex alterations in maternal-placental and fetal compartments. This article discusses the unique features of diabetic pregnancies as they pertain to the maternal changes that must occur to accommodate the fetus. ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1983-10-01 00:00:00
abstract：:The fetal environment is thus well suited for normal growth and development with oxygen availability exceeding oxidative needs. With impairments in blood gas exchange this excess oxygen acts as a "margin of safety," providing for the maintenance of oxidative metabolism through increases in fractional O2 extraction, al...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1989-09-01 00:00:00
abstract：:Many aspects of the forward propulsion of enteral nutrients are not fully mature in the preterm and term neonate. Because the regulation of motor activity in the gastrointestinal tract is complex and multifaceted, many levels of regulation of this activity are immature in the preterm infant; however, as neonatologists...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1996-06-01 00:00:00
abstract：:Postpartum hemorrhage is an obstetric emergency that represents a major cause of maternal morbidity and mortality. With the recent rise in the cesarean delivery rate, prompt recognition and proper management at the time of cesarean delivery are becoming increasingly important for providers of obstetrics. Preparedness ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2008.07.007
更新日期：2008-09-01 00:00:00
abstract：:The educational programs that have been developed in newborn special care facilities have two purposes: first, they teach personnel the manual skills that are necessary to manage the sick newborn infant; second, they provide personnel with a better understanding of neonatal pathophysiology so that they can begin to re...
journal_title：Clinics in perinatology
pub_type： 杂志文章
doi：
更新日期：1976-09-01 00:00:00
abstract：:Current methods of intrapartum surveillance have made little impact on fetal mortality and morbidity while leading to increased caesarean section rates. Near-infrared spectroscopy is a powerful new technique that can continuously measure changes in fetal cerebral oxygenation and hemodynamics during labor. Data are pre...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1997-09-01 00:00:00
abstract：:Congenital lobar emphysema is an uncommon but potentially life-threatening cause of respiratory distress in the newborn. The clinical picture and radiologic findings are diagnostic. Lobectomy in the distressed neonate is curative. In infants with onset of symptoms between one and four months of age surgery may not be ...
journal_title：Clinics in perinatology
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
abstract：:Two different care procedures are presented to raise the difficult question of whether we should completely reevaluate our paradigms of care in the perinatal period. In this thorough review, should we continue to use the same framework of beliefs in deciding on the benefits and risks of any care procedure? ...
journal_title：Clinics in perinatology
pub_type： 杂志文章
doi：
更新日期：1988-12-01 00:00:00
abstract：:The signs and symptoms associated with necrotizing enterocolitis (NEC) and the common scenarios in which NEC is observed are described to help physicians appreciate the breadth of this illness and to aid in the identification and diagnosis of those affected. An outline for medical management of infants with NEC is pre...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1994-06-01 00:00:00
abstract：:Each year, approximately 2.7 million babies die during the neonatal period; more than 90% of these deaths occur in developing countries, largely from preventable causes. The known, evidence-based, simple, low-cost interventions that may improve neonatal survival often have low or unknown baseline coverage rates. Gaps ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2017.05.002
更新日期：2017-09-01 00:00:00
abstract：:A review of the English literature reveals considerable disagreement regarding the cardiovascular hemodynamics of preeclampsia as measured by both noninvasive and invasive techniques. In the untreated patient, most of the data suggest the presence of low CO, low PCWP, and elevated SVR as compared to normotensive pregn...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1991-12-01 00:00:00
abstract：:Obstetric ultrasound (US) is an integral part of fetal surgery for open and minimally invasive techniques. With advances in US imaging, the ability to refine diagnosis, predict prognosis, and contribute to fetal treatment continues to grow. Current research in fetal diagnosis and treatment includes identifying the mos...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2009.03.009
更新日期：2009-06-01 00:00:00
abstract：:Necrotizing enterocolitis (NEC) is a devastating bowel necrosis that predominantly affects preterm infants and is characterized by an imbalance toward a proinflammatory state. Fish oil or omega-3 long-chain polyunsaturated fatty acids have the potential to modulate inflammation. In this article, the authors examine th...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2018.09.004
更新日期：2019-03-01 00:00:00
abstract：:Stridor, a common presenting sign of respiratory distress in a newborn, has many systemic causes. It may arise from the larynx or the tracheobronchial airway. This article presents the most common pathologic conditions in this anatomic region, with highlights on management. ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2018.07.015
更新日期：2018-12-01 00:00:00
abstract：:The enunciation of equipment requirements has been attempted as needs appear today. Detailed and technical specifications for some of this equipment must be understood prior to major acquisitions. An awareness of current trends in clinical research can often be obtained from appropriate consultants which should forest...
journal_title：Clinics in perinatology
pub_type： 杂志文章
doi：
更新日期：1976-09-01 00:00:00
abstract：:Gastrointestinal endoscopy permits direct observation of the alimentary tract, acquisition of mucosal tissue for histopathologic examination, and other diagnostic and therapeutic maneuvers. Endoscopes of appropriate size for many neonates and an expanding array of compatible tools and accessories have broadened what i...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2020.02.012
更新日期：2020-06-01 00:00:00
abstract：:We emphasize again that the prevalence of maternal infections may vary in different populations, and others might arrive at different estimates about the percentage of infants colonized and, concerning those infants colonized, about the percentage with adverse outcomes. Additionally, many women are colonized or infect...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1997-03-01 00:00:00
abstract：:Visual evoked potentials (VEPs) are easily recorded in the neonatal intensive care setting using light-emitting diode goggles as the flash stimulus. They are sensitive measures of CNS integrity and are altered or abolished by hypoxia. Prognosis in newborns with birth asphyxia or hypoxia is difficult to predict; howeve...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1993-06-01 00:00:00
abstract：:Although continuous positive airway pressure (CPAP) is an effective strategy to prevent invasive ventilation, failure rates are high and many babies require endotracheal intubation. Prolonged exposure to mechanical ventilation is linked with bronchopulmonary dysplasia and other morbidities. Different techniques of nas...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2016.07.013
更新日期：2016-12-01 00:00:00
abstract：:Congenital diaphragmatic hernia results in abnormal lung development. There is a global hypoplasia with both lungs affected, the ipsilateral lung more severely. This results in a reduction in the number of bronchial divisions and a decrease in the quantity and maturity of the alveoli. The pneumocytes are dysfunctional...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1996-12-01 00:00:00
abstract：:Decision-making for extremely immature preterm infants at the margins of viability is ethically, professionally, and emotionally complicated. A standard for prenatal consultation should be developed incorporating assessment of parental decision-making preferences and styles, a communication process involving a recipro...
journal_title：Clinics in perinatology
pub_type： 杂志文章
doi：10.1016/j.clp.2011.06.004
更新日期：2011-09-01 00:00:00
abstract：:Beta-sympathomimetic agents are used extensively in obstetrics to inhibit premature labor. Knowledge of the pharmacology, mode of action on smooth muscle, and cardiovascular and metabolic side effects of these agents is essential for the obstetrician and perinatologist. This review article draws extensively on recent ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1987-12-01 00:00:00
abstract：:With the increased use of fertility agents and the transfer of multiple embryos, multifetal gestations have increased in number. As the number of fetuses increases, the probability of premature birth and delivery does. The role of multifetal pregnancy reduction and selective termination is reviewed. ...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1992-06-01 00:00:00
abstract：:Late preterm neonates have unique susceptibilities to infection. The closed setting of the neonatal ICU (NICU) and the immunologic immaturity of premature infants set the state for the development of nosocomial infections. This article discusses infections that might be seen in this population and gives options for di...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2006.09.005
更新日期：2006-12-01 00:00:00
abstract：:Human milk provided by healthy and well-nourished mothers is believed to cover the infant's nutrient requirements during the first half year of life. It is composed of a mixture of nutritive components as well as other bioactive factors with relevant physiologic effects in the neonate infant. Human milk composition ha...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：
更新日期：1999-06-01 00:00:00
abstract：:Retinopathy of Prematurity (ROP) is a leading cause of childhood blindness in the United States. Optical Coherence Tomography (OCT) is a relatively new imaging technology capable of imaging ocular structures in cross section at high resolution. We present an age-customized approach to perform Spectral Domain OCT in ne...
journal_title：Clinics in perinatology
pub_type： 杂志文章,评审
doi：10.1016/j.clp.2013.02.007
更新日期：2013-06-01 00:00:00
